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Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism

2008-04-05Journal article Restricted access
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dc.contributor.authorMartins, Rute
dc.contributor.authorMorais, Anabela
dc.contributor.authorDias, Alexandra
dc.contributor.authorSoares, Isabel
dc.contributor.authorRolão, Cristiana
dc.contributor.authorDucla-Soares, JL
dc.contributor.authorBraga, Lígia
dc.contributor.authorSeixas, Teresa
dc.contributor.authorNunes, Baltazar
dc.contributor.authorOlim, Gabriel
dc.contributor.authorRomão, Luísa
dc.contributor.authorLavinha, João
dc.contributor.authorFaustino, Paula
dc.date.accessioned2012-03-01T18:53:51Z
dc.date.available2012-03-01T18:53:51Z
dc.date.issued2008-04-05
dc.description.abstractElevated erythrocyte destruction in sickle cell disease (SCD) results in chronic hyperbilirubinaemia and, in a subset of patients, cholelithiasis occurs. We investigated whether the (TA)n promoter polymorphism in the UDP-glucuronosyltransferase 1A1 gene (UGT1A1) may modify bilirubin metabolism, influencing bilirubinaemia, predisposition to cholelithiasis and subsequent cholecystectomy, in a group of 153 young SCD patients (mean age 12.0 +/- 9.0 years) predominantly of Bantu beta S haplotype. The concomitant effect of alpha thalassaemia was also analysed. Among the several UGT1A1 genotypes found, the most frequent were the (TA)6/(TA)6 (n = 37), (TA)6/(TA)7 (n = 60) and (TA)7/(TA)7 (n = 29). These groups of patients did not significantly differ in age, gender ratio and haemoglobin, foetal haemoglobin and reticulocyte levels. On the other hand, total bilirubin levels were significantly different between groups, with an increased (TA) repeat number being associated with higher bilirubinaemia. Furthermore, both cholelithiasis and cholecystectomy were more frequent in groups with higher (TA) repeat number, although the former association was not statistically significant. None of the mentioned parameters is statistically different within UGT1A1 groups with the presence of alpha thalassaemia. Thus, the UGT1A1 promoter polymorphism may represent an important nonglobin genetic modifier of Bantu SCD patients' clinical manifestations, even at a young age.por
dc.identifier.citationJ Hum Genet. 2008;53(6):524-8. Epub 2008 Apr 5por
dc.identifier.issn1434-5161
dc.identifier.issndoi:10.1007/s10038-008-0281-3
dc.identifier.urihttp://hdl.handle.net/10400.18/715
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSpringer Verlagpor
dc.relation.publisherversionhttp://www.springerlink.com/content/lt6w31177n312330/fulltext.pdfpor
dc.subjectDoenças Genéticaspor
dc.subjectDeterminantes da Saúde e da Doençapor
dc.subjectPatologias do Glóbulo Vermelhopor
dc.subjectEpidemiologiapor
dc.subjectUGT1A1por
dc.subjectSickle Cell Diseasepor
dc.subjectModifier Genespor
dc.subjectHyperbilirubinaemiapor
dc.subjectAlpha Thalassaemiapor
dc.titleEarly modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphismpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage528por
oaire.citation.startPage524por
oaire.citation.titleJournal of Human Geneticspor
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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